학술논문
'학술논문'
에서 검색결과 127건 | 목록
1~10
Academic Journal
Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S.; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K.; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G.; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L.; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S.; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette
European Journal of Human Genetics. 31(9):1023-1031
Academic Journal
Iranian Journal of Applied Ecology, Vol 11, Iss 4, Pp 15-31 (2023)
Academic Journal
Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B.; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortüm, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Bakhtiari, Somayeh; Kruer, Michael C.; Salih, Mustafa A.; Kuechler, Alma; Muller, Eric A.; Blocker, Karli; Kuismin, Outi; Park, Kristen L.; Kochhar, Aaina; Brown, Kathleen; Ramanathan, Subhadra; Clark, Robin D.; Elgizouli, Magdeldin; Melikishvili, Gia; Tabatadze, Nazhi; Stark, Zornitza; Mirzaa, Ghayda M.; Ong, Jinfon; Grasshoff, Ute; Bevot, Andrea; von Wintzingerode, Lydia; Jamra, Rami A.; Hennig, Yvonne; Goldenberg, Paula; Al Alam, Chadi; Charif, Majida; Boulouiz, Redouane; Bellaoui, Mohammed; Amrani, Rim; Al Mutairi, Fuad; Tamim, Abdullah M.; Abdulwahab, Firdous; Alkuraya, Fowzan S.; Khouj, Ebtissal M.; Alvi, Javeria R.; Sultan, Tipu; Hashemi, Narges; Karimiani, Ehsan G.; Ashrafzadeh, Farah; Imannezhad, Shima; Efthymiou, Stephanie; Houlden, Henry; Sticht, Heinrich; Zweier, Christiane
In Genetics in Medicine August 2023 25(8)
Academic Journal
Byeon, Seul Kee; Madugundu, Anil K; Garapati, Kishore; Ramarajan, Madan Gopal; Saraswat, Mayank; Kumar-M, Praveen; Hughes, Travis; Shah, Rameen; Patnaik, Mrinal M; Chia, Nicholas; Ashrafzadeh-Kian, Susan; Yao, Joseph D; Pritt, Bobbi S; Cattaneo, Roberto; Salama, Mohamed E; Zenka, Roman M; Kipp, Benjamin R; Grebe, Stefan K G; Singh, Ravinder J; Sadighi Akha, Amir A; Algeciras-Schimnich, Alicia; Dasari, Surendra; Olson, Janet E; Walsh, Jesse R; Venkatakrishnan, A J; Jenkinson, Garrett; O'Horo, John C; Badley, Andrew D; Pandey, Akhilesh
In The Lancet Digital Health September 2022 4(9):e632-e645
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Academic Journal
Paola Borgia; Simona Baldassari; Nicoletta Pedemonte; Ebba Alkhunaizi; Gianluca D’Onofrio; Domenico Tortora; Elisa Calì; Paolo Scudieri; Ganna Balagura; Ilaria Musante; Maria Cristina Diana; Marina Pedemonte; Maria Stella Vari; Michele Iacomino; Antonella Riva; Roberto Chimenz; Giuseppe D. Mangano; Mohammad Hasan Mohammadi; Mehran Beiraghi Toosi; Farah Ashrafzadeh; Shima Imannezhad; Ehsan Ghayoor Karimiani; Andrea Accogli; Maria Cristina Schiaffino; Mohamad Maghnie; Miguel Angel Soler; Karl Echiverri; Charles K. Abrams; Pasquale Striano; Sara Fortuna; Reza Maroofian; Henry Houlden; Federico Zara; Chiara Fiorillo; Vincenzo Salpietro
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Academic Journal
Borgia, Paola; Baldassari, Simona; Pedemonte, Nicoletta; Alkhunaizi, Ebba; D’Onofrio, Gianluca; Tortora, Domenico; Calì, Elisa; Scudieri, Paolo; Balagura, Ganna; Musante, Ilaria; Diana, Maria Cristina; Pedemonte, Marina; Vari, Maria Stella; Iacomino, Michele; Riva, Antonella; Chimenz, Roberto; Mangano, Giuseppe D.; Mohammadi, Mohammad Hasan; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Accogli, Andrea; Schiaffino, Maria Cristina; Maghnie, Mohamad; Soler, Miguel Angel; Echiverri, Karl; Abrams, Charles K.; Striano, Pasquale; Fortuna, Sara; Maroofian, Reza; Houlden, Henry; Zara, Federico; Fiorillo, Chiara; Salpietro, Vincenzo
Orphanet Journal of Rare Diseases. 17(1)
Academic Journal
Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G.; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T.; Aubertin, Gudrun; Estrada-Veras, Juvianee I.; Hernández, Héctor Adrián Díaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L.; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S.; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Ambrose, J.C.; Arumugam, P.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Caulfield, M.J.; Chan, G.C.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O‘Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Walsh, E.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z.; Mora, Sara; Palculict, Timothy B.; Yang, Hui; Wren, Jonathan D.; Ben Fowler; Joshi, Manali; Behra, Martine; Burgess, Shawn M.; Nath, Swapan K.; Hanna, Michael G.; Kenna, Margaret; Merritt, J. Lawrence, II; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S.; Haaf, Thomas; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Varshney, Gaurav K.
In Genetics in Medicine October 2021 23(10):1933-1943
Conference
2013 4th IEEE International Symposium on Power Electronics for Distributed Generation Systems (PEDG) Power Electronics for Distributed Generation Systems (PEDG), 2013 4th IEEE International Symposium on. :1-7 Jul, 2013
Academic Journal
In Journal of Investigative Dermatology May 2020 140(5):952-958
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